Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: Detection of carriers and prenatal diagnosis

Archives of Gynecology and Obstetrics

Volumn 269, Issue 4, 2004, Pages 266-269

  Fogu, G ^a   Bertini, V ^b   Dessole, S ^a   Bandiera, P ^a   Campus, P M ^a   Capobianco, G ^a   Sanna, R ^a   Soro, G ^a   Montella, A ^a  

^a UNIVERSITY OF SASSARI   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

Androgen receptor gene; Complete androgen insensitivity syndrome; Linkage; Short tandem repeat

Indexed keywords

ANDROGEN RECEPTOR; GENOMIC DNA;

ALLELE; AMNIOTIC FLUID CELL; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; FAMILY STUDY; FIBROBLAST; GENETIC LINKAGE; HUMAN; HUMAN CELL; LYMPHOCYTE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SHORT TANDEM REPEAT; SYNDROME DELINEATION;

EID: 2442647557     PISSN: 09320067     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00404-002-0405-5     Document Type: Article

References (27)

1. Brinkmann AO, Trapman J (2000) Genetic analysis of androgen receptors in development and disease. Adv Pharmacol 47:317-341
2. Brinkmann AO, Faber PW, Rooij HC van, Kuiper GG, Ris C, Klaassen P, Korput JA van der, Voorhorst MM, Laar JH van, Mulder E, Trapman J (1989) The human androgen receptor: domain structure, genomic organization and regulation of expression. J Steroid Biochem 34:307-310
3. Bruggenwirth HT, Boehmer AL, Verleun-Mooijman MC, Hoogenboezem T, Kleijer WJ, Otten BJ, Trapman J, Brinkmann AO (1996) Molecular basis of androgen insensitivity. J Steroid Biochem Mol Biol 58:569-575
4. Bruggenwirth HT, Boehmer AL, Ramnarain S, Verleun-Mooijman MC, Satijn DP, Trapman J, Grootegoed JA, Brinkmann AO (1997) Molecular analysis of androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation. Am J Hum Genet 61:1067-1077
5. De Bellis A, Quigley CA, Marschke KB, el-Awady MK, Lane MV, Smith EP, Sar M, Wilson EM, French FS (1994) Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. J Clin Endocrinol Metab 78:513-522
6. Dessole S, Ambrosini G, D'Antona D, Cherchi PL, Dalla Pria S, Ambrosini A (1997) Laparoscopic bilateral gonadectomy in two sisters with complete testicular feminization. In: Monduzzi (ed) Proceedings of the international meeting on infertility and assisted reproductive technology. From research to therapy. Porto Cervo, Sassari, Italy, pp 581-584
7. Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R (1992) Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12:241-253
8. Gottlieb B, Bietel LK, Lumbroso R, Pinsky L, Trifiro M (1999) Update of the androgen receptor gene mutations database. Hum Mutat 14:103-114
9. Hiort O, Huang Q, Sinnecker GH, Sadeghi-Nejad A, Kruse K, Wolfe HJ, Yandell DW (1993) Single strand conformational polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counselling, and therapy. J Clin Endocrinol Metab 77:262-266
10. Kuiper GG, Faber PW, Rooij HC van, Korput JA van der, Ris-Stalplars C, Klaassen P, Trapman J, Brinkmann AO (1989) Structural organization of the human androgen receptor gene. J Mol Endocrinol 2:R1-R4
11. Lobaccaro JM, Lumbroso S, Pigeon FC, Chaussain JL, Toublanc JE, Job JC, Olewniczack G, Boulot P, Sultan C (1992) Prenatal prediction of androgen insensitivity syndrome using exon 1 polymorphism of the androgen receptor gene. J Steroid Biochem Mol Biol 43:659-663
12. Lobaccaro JM, Lumbroso S, Berta P, Chaussain JL, Sultan S (1993) Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. J Steroid Biochem Mol Biol 44:211-216
13. Lobaccaro JM, Belon C, Lumbroso S, Olewniczack G, Carre-Pigeon F, Job JC, Chaussain JL, Toublanc JE, Sultan C (1994) Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene. Clin Endocrinol 40:297-302
14. Lumbroso S, Lobaccaro JM, Belon C, Amram S, Bachelard B, Garandeau P, Sultan C (1994) Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome). Eur J Endocrinol 130:327-332
15. Morel Y, Mebarki F, Forest MG (1994) What are the indications for prenatal diagnosis in the androgen insensitivity syndrome? Facing clinical heterogeneity of phenotypes for the same genotype. Eur J Endocrinol 130:325-326
16. Morris JM (1953) The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65:1192-1211
17. Pinsky L, Kaufman M (1987) Genetics of steroid receptors and their disorders. Adv Hum Genet 16:299-472
18. Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS (1995) Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16:271-321
19. Ris-Stalpers C, Hoogenboezem T, Sleddens HF, Verleun-Mooijman MC, Degenhart HJ, Drop SL, Halley DJ, Oosterwijk JC, Hodgins MB, Trapman J, Brinkmann AO (1994) A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity. Pediatr Res 36:227-234
20. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory, New York
21. Sleddens HF, Oostra BA, Brinkmann AO, Trapman J (1992) Trinucleotide repeat polymorphism in the androgen receptor gene (AR). Nucleic Acids Res 25:1427
22. Tilley WD, Marcelli M, Wilson JD, McPhaul MJ (1989) Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci USA 86:327-331
23. Trapman J, Klaassen P, Kuiper GG, Korput JA van der, Faber PW, Rooij HC van, Geurts van Kessel A, Voorhorst MM, Mulder E, Brinkmann AO (1988) Cloning, structure and expression of a cDNA encoding the human androgen receptor. Biochem Biophys Res Commun 153:241-248
24. Weidemann W, Linck B, Haupt H, Mentrup B, Romalo G, Stockklauser K, Brinkmann AO, Schweikert HU, Spindler KD (1996) Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. Clin Endocrinol 45:733-739
25. Wilson JD, Griffin JE, Leshin M, Macdonald PC (1983) The androgen resistance syndromes: 5α-reductase deficiency, testicular feminization, and related disorders. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 1001-1026
26. Yong EL, Chua KL, Yang M, Roy A, Ratnam S (1994) Complete androgen insensitivity due to a splice-site mutation in the androgen receptor gene and genetic screening with single-stranded conformation polymorphim. Fertil Steril 61:856-862
27. Zoppi S, Wilson CM, Harbison MD, Griffin JE, Wilson JD, McPhaul MJ, Marcelli M (1993) Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation. J Clin Invest 91:1105-1112